rs849118

Homo sapiens
G>A
PARD3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0064 (1939/29974,GnomAD)
A=0085 (2499/29118,TOPMED)
A=0063 (315/5008,1000G)
A=0008 (31/3854,ALSPAC)
A=0008 (30/3708,TWINSUK)
chr2:205160450 (GRCh38.p7) (2q33.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.205160450G>A
GRCh37.p13 chr 2NC_000002.11:g.206025174G>A

Gene: PARD3B, par-3 family cell polarity regulator beta(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PARD3B transcript variant 1NM_001302769.1:c.N/AIntron Variant
PARD3B transcript variant 3NM_057177.6:c.N/AIntron Variant
PARD3B transcript variant 2NM_152526.5:c.N/AIntron Variant
PARD3B transcript variant 4NM_205863.3:c.N/AIntron Variant
PARD3B transcript variant X1XM_011510552.2:c.N/AIntron Variant
PARD3B transcript variant X13XM_011510553.2:c.N/AIntron Variant
PARD3B transcript variant X2XM_017003283.1:c.N/AIntron Variant
PARD3B transcript variant X3XM_017003284.1:c.N/AIntron Variant
PARD3B transcript variant X4XM_017003285.1:c.N/AIntron Variant
PARD3B transcript variant X5XM_017003286.1:c.N/AIntron Variant
PARD3B transcript variant X6XM_017003287.1:c.N/AIntron Variant
PARD3B transcript variant X7XM_017003288.1:c.N/AIntron Variant
PARD3B transcript variant X8XM_017003289.1:c.N/AIntron Variant
PARD3B transcript variant X9XM_017003290.1:c.N/AIntron Variant
PARD3B transcript variant X10XM_017003291.1:c.N/AIntron Variant
PARD3B transcript variant X11XM_017003292.1:c.N/AIntron Variant
PARD3B transcript variant X12XM_017003293.1:c.N/AIntron Variant
PARD3B transcript variant X14XM_017003294.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.823A=0.177
1000GenomesAmericanSub694G=0.980A=0.020
1000GenomesEast AsianSub1008G=0.969A=0.031
1000GenomesEuropeSub1006G=0.984A=0.016
1000GenomesGlobalStudy-wide5008G=0.937A=0.063
1000GenomesSouth AsianSub978G=0.980A=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.992A=0.008
The Genome Aggregation DatabaseAfricanSub8718G=0.842A=0.158
The Genome Aggregation DatabaseAmericanSub838G=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1618G=0.962A=0.038
The Genome Aggregation DatabaseEuropeSub18498G=0.974A=0.026
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.935A=0.064
The Genome Aggregation DatabaseOtherSub302G=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.914A=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.992A=0.008
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs8491180.000532alcohol dependence21314694

eQTL of rs849118 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs849118 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr2206040754206040849E06815580
chr2206062275206062428E06837101
chr2206062564206063220E06837390
chr2206004516206005151E070-20023
chr2206040754206040849E07015580
chr2206040982206041287E07015808
chr2206041396206041549E07016222
chr2206053103206053688E07027929
chr2206054151206054285E07028977
chr2206054287206054492E07029113
chr2206062275206062428E07037101
chr2206062564206063220E07037390
chr2206040754206040849E07115580
chr2206040982206041287E07115808
chr2206062564206063220E07137390
chr2206035176206035333E07410002
chr2206003353206003765E081-21409
chr2206004516206005151E081-20023
chr2206039970206040035E08114796
chr2206040076206040126E08114902
chr2206040754206040849E08115580
chr2206040982206041287E08115808
chr2206041396206041549E08116222
chr2206052885206052945E08127711
chr2206053103206053688E08127929
chr2206054151206054285E08128977
chr2206054287206054492E08129113
chr2206003353206003765E082-21409
chr2206039970206040035E08214796
chr2206040076206040126E08214902
chr2206040754206040849E08215580
chr2206040982206041287E08215808
chr2206041396206041549E08216222
chr2206052885206052945E08227711
chr2206053103206053688E08227929
chr2206054151206054285E08228977